Charcot-Marie-Tooth Disease Support Group

Charcot-Marie-Tooth disease, also known as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in the advanced stages of disease.

Advice for 40yr old CMT male at a turning point...

Hello all, I'm looking for general advice from folks who might have been in my situation before. If you're not interested in the long story, look at the bottom for the "too long; didn't read" (TL;DR) tag...

I'm a 40 year old male with CMT (1A). Symptomatic onset (pes cavus, atrophied lower legs) was around age 10 or so and diagnosed by an especially astute pediatrician. Years later, both my mom and my maternal grandfather were diagnosed as well.

I was never good at sports and in my teens I started to have balance and gait problems (taken advantage of by the bullies in school, of course). Early in high-school I started wearing custom orthotics but, though they provided comfort, they did not help much with weakness and foot drop and I had trouble walking as far as my friends could.

In my 20's symptoms of weakened hands and forearms, further degradation of my gait and stability, and depression and anxiety manifested. In retrospect, neuropathic pain started around this time as well but I mistook it for muscle cramps (I used to get them very badly in junior high and high school as well - they were typically dismissed as "growing pains").

In my 30's my ankles became very weak and I broke one playing an unexciting game of frizbee toss. At that point I started wearing rigid AFOs. My mother and late grandfather use(d) braces as well. During this decade neuropathic pain became more pronounced: burning, tingling, pins-and-needles in my feet, numbness and tingling in my hands, and generalized achy/throbbing pain in legs from the knees down and my arm and hands from the elbows down. Sensory loss became more pronounced (substantiated by nerve-conduction studies - oh fun) and my hands became much weaker. As if these things weren't enough, I got hit by a bunch more as well - some doctors suggest stress as a causative/exacerbating factor.

In my early 30's I started to suffer from gastro-intestinal reflux disease and IBS-like digestion issues. While the GERD was intitally controlled with proton-pump inhibiting medication, after about seven years of this treatment, I started having terrible muscle cramps from magnesium deficiency caused by lower-acid production. After significant dietary changes and switching to H2 antagonist medication, I'm able to mitigate the GERD. The root cause is stomach "spasms" with an incompetent lower-esophageal sphincter - the doctor thinks both of these could be contributed to by CMT. My intestinal motility is a problem as well, often going from diarrhea to constipation - this has also been possibly attributed to the CMT. Dietary changes helped but I still get cramps and spams in my intestines multiple days in the week.

In my mid 30's I started to have fatigue and daytime sleepiness from undiagnosed sleep-apnea. The sleep-apnea was diagnosed during (a few sleep studies), labeled obstructive-sleep apena (OSA) and treated with CPAP. After a few years of treatment and an inability to further lower my apnea-hypopnea index, my doctor said that the OSA was treated as well as possible and the remaining issue is one of central sleep apnea (CSA). She suspects the CSA is a result of CMT. A year or two of trying different CPAP and BiPAP devices and constantly adjusting pressure resulted in very little change, thus reinforcing her feeling that CSA will not be much affected by the CPAP therapy.

Now I'm 40 and I'm finding the most hard to manage problems are pain and fatigue. I have tried low-dose antidepressants, gabapentin, muscle relaxers, and NSAIDs for the pain without much relief. I work as a software engineering manager and the "brain fog" that accompanies most of these medications makes it impossible to be effective at work while taking them. The fatigue is the worst and makes it quite hard for me to get through an entire day. Every three or four weeks I end up taking a few days off because I'm either too exhausted or have caught some cold or other virus (likely from lowered immunity from being too exhausted). My hands are less coordinated than they used to be and as a result I type very slowly but get by ok.

At this point I'm not sure what to do with myself. I'm having trouble keeping up with my peers (well, that's been a common theme in my life) but I'm afraid of when this will be noticed or become an issue for my bosses. I'm at a turning point in the progression of my disease but I'm unsure of what I can do about it.

I'm married and my wife is seven months pregnant with our first child (I hope the kid doesn't have CMT). More fatigue-inducing things (read: baby) are coming my way very quickly and I'm not sure if I'm going to make it without me (or something else) breaking. My wife works but earns less than a third of what I do (though she has a PhD where as I have but a high-school diploma) so I'm the large part of our household income.

I've thought about talking to HR to see if I can work reduced hours (maybe a four-day week) but as a manager, this might be frowned upon. Upper management at my workplace is not enthusiastic about working from home either (especially middle-managers who are expected to always be present in the office). I've thought about looking for an "easier" job but this will likely result in too much of a pay-cut and I don't know how much energy I have to start a new position (my last job change three years ago almost did me in from depression and exhaustion). I've thought about trying for disability but have read it's hard to get and likely won't be enough for us to live on. So, I'm kinda at a loss for ideas. I can't perform as well as I used to. Pain medication or the pain itself makes brainwork significantly harder than it used to be. Nervousness about underperforming worsens the constant anxiety and depression I feel from "all my other problems." I don't think I can do this much longer before the stress causes a catastrophic health issue or sinks me into a depression I can't get out of...

TL;DR - Yeah, this was a long backstory. Here's the executive summary:
CMT and other issues accompanying it have degraded my performance at work. Fatigue and pain is making it hard to be as productive as I once was. I want/need to keep working but I can't keep up the pace any longer. Any suggestion for action in my situation?

You sound like you have had a lot going on in the last 40 years. My best 'advice' to you would be to stay positive and keep active! They say that exercise can be the best anti- depressant. Also if you are down in the dumps, and sluggish you may not have your CPAP set right or you may not be on the right medication. It may even be as easy as switching the time you take it. I have worked in the Mental health field and am pretty familiar with most medications. I am not a doctor, but I do know a lot of side effects. Don't be afraid to talk with your doctor. You are paying them for your time. Good luck to you and your wife!!! Also I find power naps on lunch breaks are awesome!!! lol

Hi, I hope you're doing well. Sounds like you need accommodation. You have been diagnosis with a disease by a Dr. So, you can show your boss a Dr. note to accommodate you at work ; less hours, rest, etc..what ever Dr thinks you need to keep you able to work and meet your health needs. Your company can't deny that to you according to ADA laws. If they give you problem, ask for it in writing. You need to make sure you write a request (written) for accommodation and show them the Dr. note. Check out ADA and EEOC website for further information about your rights.

The most I have to offer you is sympathy. I am a 34 year old female and I was half way through my (BSN) Bachelors of Science in Nursing Degree, and due to pain and fatigue from my CMT I had to stop my schooling. It was impossible to do my school work while experiencing chronic pain and fatigue.

I feel a little better without the stress of school, but 90% of my days I wake up and wonder how I am going to make it through another day. I'm on neuropathic pain meds and antidepressants.

Unless someone has experienced this extent of pain and fatigue (like you and I), there is just no way of explaining it to anybody.

Being tired, in pain, and slowly loosing function of my hands and legs is so mentally difficult to take, now I am having panic attacks and major anxiety.

I have an amazing husband and 4 year old son who need me, and it scares me so bad when I feel like this disease is changing the person that I really am in my head.... but my body won't let me be that person.

I have applied for disability twice and been denied both times. My doctor said that I need to get an attorney.

Actually I do have advise for you. The biggest lesson I have learned through all of this is that you need to take care of yourself so your symptoms don't worsen by stress. How about you get an attorney and apply for disability right away? You may have to change your lifestyle a little due to the decrease of income, but you health is more important.... specially for that beautiful little baby you are going to have, and for your wife. I truly believe that family comes first and that includes taking care of yourself:-) I'm sure your family would rather have you happy and as healthy as possible, than having you not healthy and stressed out all the time.... even if it means that you bring home less money.

I too have lived much of my life struggling with the many losses that CMT brings to our lives. Truly we each face a trial in our life that few people understand. Neither our loved ones, coworkers or strangers truly understand what we are going through. I too loved sports, but was horrible because of my weakened muscles. I turned to work as a way to escape my ever changing limitations, each day making a specific choice in how I expended my daily energy levels. I chose to give all my energies towards my work as a special education teacher-- I knew the work it would take each of my students to overcome their varying degrees of disability, I gave my energy to help these children--instead of building up friendships within the school I taught, or my home church.

Several years ago I had an accident I smashed my femur just above my knee cap, which meant I permanently lost my ability for ever walking again, this also meant I could no longer drive a car. My last two years as a teacher my wife drove me to/from work, my three friends at work would drive me home at night. I am a proud man at times and have strived all my life to be the one in control, the one to always provide and care for others, but God doesn't want us to live this way, we are to live where we are dependent upon Him, and dependent upon the people God places in our lives.

It hasn't been easy giving up control over to areas of my life, very humbling, but know that the love you have with your spouse/family member is deepened and tested. I had a friend with CMT who turned to alcohol/drugs to get away from his pain--it destroyed his family and he died all alone. My point is that we each need weather through the many trials of CMT with God's help..I went through that crisis of faith during the time my CMT took everything from my life in my early 20's, every dream and hope was shattered, remember begging God to let me die, I was sleeping 18 hours a day, barely able to have the strength to transfer from wheelchair to chair. But God gave me hope, he gave me a desire to know his son Jesus.

I don't know why some people have any kind of disease, my mom died of cancer, while my dad died of a heart attack. I do know that these struggles can either isolate us from others or they can draw people closer together as a family and a community. It doesn't mean it is any easier on you, you still need to make those decisions for using your energy each day, but know that you are not alone in this world.

Thank you for all the responses! @bpopelka: Thank you for urging me to contact my Dr. He was very helpful and was willing to put down on paper whatever I wanted from my employers. He also got me a disabled parking placard and that really helped my energy conservation (espcially when grocery shopping). @Stricky: Your advice was great. This is exactly what I did. Not only did I check out ADA and EEOC, I also found JAN and their searchable accommodation network (http://askjan.org/soar/other/cmt.html). It had great ideas for accommodation. @CMT1A: Thank you for the sympathy and advising me to take care myself. If I hadn't stopped what I was doing and taken action to change my situation things would have been very bad indeed. @JosefLinke: Thanks for reminding me I'm not alone (sometimes it felt like I was) and that I need to make decisions on what to spend my energy on each day (this is a very important point).

My employer accommodated me. I stepped down from management back to individual contributor and reduced my hours to a four day week. I also have a work-at-home day if I need it. This is all in writing so everyone has to &quot;play nice&quot; about it. My baby was born healthy and though it has been a long year and a half, the three of us are doing pretty well. I am not as sick as often as I was and I am no longer so overwhelmed. We haven't tested my daughter for CMT yet but we might soon. In all of this, I found a CMT Center of Excellence nera me and now have a team of doctors (neurologist, occupational therapist, physical therapist, geneticist, psychologist, and representative of the MDA) all available to help me. They taught me that CMT is, at its core, a disease of &quot;energy management&quot; and that's what you have to realize every day. Do things that minimize the expenditure of energy so you have energy to do things you like. Recognizing this has helped greatly! Thank you all for your support. You really helped me make positive changes!

Hello, I'm not sure whether this will help but I've just started a blog on tumblr to try and share the ways I try to overcome symptoms of CMT, you and any other suffer are free to check it out. I am of a simlar age to you (a bit older actually) and the blog has exercise and lifestyle advise that could help you.

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